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Germline variants in the mitotic checkpoint gene BUB1B have been investigated in pediatric Rhabdomyosarcoma through targeted re-sequencing in 20 Japanese children. A single patient carried a heterozygous BUB1B missense variant, with no family segregation or disease-specific functional follow-up (PMID:34257391). This unreplicated observation provides limited genetic evidence for BUB1B as an RMS predisposition gene, and no functional assays have directly assessed the impact of BUB1B variants in RMS. Additional unrelated probands, segregation data, and mechanistic studies are required to clarify pathogenicity. Key Take-home: Preliminary findings suggest BUB1B may contribute to RMS risk, but current data are insufficient for clinical implementation.
Gene–Disease AssociationLimitedSingle RMS patient with a heterozygous BUB1B missense variant and no segregation or disease-specific functional data Genetic EvidenceLimitedOne unrelated proband with germline BUB1B missense variant ([PMID:34257391]) Functional EvidenceLimitedNo functional studies of BUB1B variants in RMS context |